Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes

P. M. Sadow; S. Reutrakul; R. E. Weiss; S. Refetoff

doi:10.1097/00060793-200010000-00008

Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes

P. M. Sadow, S. Reutrakul, R. E. Weiss, S. Refetoff

Research output: Contribution to journal › Review article › peer-review

22 Scopus citations

Abstract

Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.

Original language	English (US)
Pages (from-to)	253-259
Number of pages	7
Journal	Current Opinion in Endocrinology and Diabetes
Volume	7
Issue number	5
DOIs	https://doi.org/10.1097/00060793-200010000-00008
State	Published - Jan 1 2000
Externally published	Yes

ASJC Scopus subject areas

Internal Medicine
Endocrinology, Diabetes and Metabolism
Endocrinology

UN SDGs

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10.1097/00060793-200010000-00008

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abstract = "Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.",

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AU - Sadow, P. M.

AU - Reutrakul, S.

AU - Weiss, R. E.

AU - Refetoff, S.

PY - 2000/1/1

Y1 - 2000/1/1

N2 - Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.

AB - Most people with resistance to thyroid hormone have mutant thyroid hormone receptors that interfere with the function of the normal receptor and produce a dominant mode of inheritance. Conversely, thyroid hormone receptor β gene deletion is inherited as a recessive trait. In about 10% of cases, resistance to thyroid hormone manifests in the absence of thyroid hormone receptor gene abnormalities. The clinical manifestations and laboratory abnormalities found in these individuals are not significantly different than those found in patients with thyroid hormone receptor β defects. We propose that the defect must be elsewhere in the pathway of thyroid hormone action. (C) 2000 Lippincott Williams and Wilkins, Inc.

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JO - Current Opinion in Endocrinology, Diabetes and Obesity

JF - Current Opinion in Endocrinology, Diabetes and Obesity

SN - 1752-296X

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ER -

Resistance to thyroid hormone in the absence of mutations in the thyroid hormone receptor genes

Abstract

ASJC Scopus subject areas

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